Canonical Allele Identifier: CA403620316

Gene: C3

Linked Data

• ClinVar Variation Id: 1487278
• ClinVar RCV Id: RCV002006340
• dbSNP Id: rs1918007631
• MyVariant Identifiers: chr19:g.6686298T>G (hg19) ; chr19:g.6686287T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686287T>G , CM000681.2:g.6686287T>G	GRCh38
NC_000019.9:g.6686298T>G , CM000681.1:g.6686298T>G	GRCh37
NC_000019.8:g.6637298T>G	NCBI36
NG_009557.1:g.39365A>C , LRG_27:g.39365A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.1995A>C
ENST00000695652.1:c.3524A>C	ENSP00000512083.1:p.Asp1175Ala
ENST00000695653.1:c.1556A>C	ENSP00000512084.1:p.Asp519Ala
ENST00000695654.1:c.2672A>C	ENSP00000512085.1:p.Asp891Ala
ENST00000695655.1:c.2588A>C	ENSP00000512086.1:n.2588A>C
ENST00000695692.1:n.3011A>C
ENST00000245907.11:c.3647A>C MANE Select	ENSP00000245907.4:p.Asp1216Ala
ENST00000245907.10:c.3647A>C	ENSP00000245907.4:p.Asp1216Ala
ENST00000596238.1:n.90A>C
ENST00000601008.1:c.241+459A>C	ENSP00000471384.1:n.241+459A>C
NM_000064.3:c.3647A>C	NP_000055.2:p.Asp1216Ala
NM_000064.4:c.3647A>C MANE Select	NP_000055.2:p.Asp1216Ala